Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?

A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy

(2012) Moneef Shoukier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion

(2011) Georg M. Stettner et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

(2011) Erin B. Kaminsky et al.   GENETICS IN MEDICINE

Phenotypic spectrum associated with CASK loss-of-function mutations

(2011) U. Moog et al.   JOURNAL OF MEDICAL GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

(2010) Erin L. Heinzen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The prevalence of mental retardation: a critical review of recent literature

(2010) Nel Roeleveld et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene

(2010) Almuth Caliebe et al.   European Journal of Medical Genetics

A novel microdeletion/microduplication syndrome of 19p13.13

(2010) Michelle Dolan et al.   GENETICS IN MEDICINE

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

(2010) Melanie Manning et al.   GENETICS IN MEDICINE

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

(2009) Roberto Giorda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular characterization of two patients with de novo interstitial deletions in 4q22-q24

(2009) Yvonne Hilhorst-Hofstee et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

(2009) Sandesh Chakravarthy Sreenath Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

(2009) L. E. L. M. Vissers et al.   JOURNAL OF MEDICAL GENETICS

Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia

(2009) Angela Magariello et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene

(2008) Maria Francesca Bedeschi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Characterization of an interstitial deletion 6q13–q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms

(2008) James Lespinasse et al.   European Journal of Medical Genetics

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

(2008) F D Hannes et al.   JOURNAL OF MEDICAL GENETICS

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis

(2008) X.-Y. Lu et al.   PEDIATRICS